Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587776508
rs587776508
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0